Abstract
A 2-month-old infant presented with vomiting, lethargy and pancytopaenia. She was found to have propionic acidaemia, and the activity of propionyl-CoA carboxylase in cultured fibroblasts was defective (McKusick 23200). Abnormal amounts of glycine, 3-hydroxypropionate, methylcitrate, tiglylglycine, propionylglycine, 2-methylacetoacetate, 2-methyl-3-hydroxybutyrate, 3-oxovalerate and 3-hydroxyvalerate were found in body fluids. It appears that the organic acidaemia leads to an inhibition in the maturation of cells in the bone marrow.
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Sweetman, L., Nyhan, W.L., Cravens, J. et al. Propionic acidaemia presenting with pancytopaenia in infancy. J Inherit Metab Dis 2, 65–69 (1979). https://doi.org/10.1007/BF01801721
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DOI: https://doi.org/10.1007/BF01801721